Table_1_Strategies in Rapid Genetic Diagnostics of Critically Ill Children: Experiences From a Dutch University Hospital.XLSX

Background: Genetic disorders are a substantial cause of infant morbidity and mortality and are frequently suspected in neonatal intensive care units. Non-specific clinical presentation or limitations to physical examination can result in a plethora of genetic testing techniques, without clear strategies on test ordering. Here, we review our 2-years experiences of rapid genetic testing of NICU patients in order to provide such recommendations. Methods: We retrospectively included all patients admitted to the NICU who received clinical genetic consultation and genetic testing in our University... Mehr ...

Verfasser: Miriam E. Imafidon (10898133)
Birgit Sikkema-Raddatz (3536783)
Kristin M. Abbott (10898136)
Martine T. Meems-Veldhuis (10898139)
Morris A. Swertz (7596359)
K. Joeri van der Velde (5703353)
Gea Beunders (10898142)
Dennis K. Bos (10898145)
Nine V. A. M. Knoers (10898148)
Wilhelmina S. Kerstjens-Frederikse (3833236)
Cleo C. van Diemen (9135885)
Dokumenttyp: Dataset
Erscheinungsdatum: 2021
Schlagwörter: Foetal Development and Medicine / Obstetrics and Gynaecology / Paediatrics / Paediatrics and Reproductive Medicine not elsewhere classified / neonatal intensive care (unit) / next generation sequencing / genetic diagnostics / copy number variation / genetic disease
Sprache: unknown
Permalink: https://search.fid-benelux.de/Record/base-29018995
Datenquelle: BASE; Originalkatalog
Powered By: BASE
Link(s) : https://doi.org/10.3389/fped.2021.600556.s001